Neurofibromatosis Type I

Background

Neurofibromatosis type 1 (NF1), also known as 'Von Recklinghausen’s disease', is a genetic disorder affecting about 1 in 3000 people. Physical manifestations of NF1 include:

café-au-lait spots,

skin fold freckling,

optic nerve glioma,

osseous (bone) abnormalities,

iris Lisch nodules,

and cutaneous and plexiform neurofibromas.

Cognitive impairment is present in approximately 50% of NF1 patients. Many different types of cognitive problems have been observed in NF1-patients. Our previous studies have focused on the further elucidation of the cognitive profile of NF1-patients.

We have extended this research to include aspects of social cognition and social functioning. Studies have also described many different abnormalities in the brains of NF1-patients, but have largely been unable to find strong associations with cognitive functioning. Our current work involves a study into structural and functional connectivity in the brains of NF1-patients in relation to their (social-) cognitive functioning.